earticle

영어

Fabry disease is an X-linked recessive disorder of glycosphingolipid metabolism resulting from the deficient activity of the lysosomal enzyme, α-galactosidase A. It leads to the systemic accumulation of glycosphingolipids including globotriaosylceramide (GL3) in the plasma and tissue lysosomes. Classically affected hemizygous males, with no residual α-galactosidase Aactivity may display all the characteristic sign, including neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischemic attacks, strokes) features of the disease. While, heterozygous females have symptoms ranging from very mild to severe. Thus, it is not easy to diagnose Fabry disease in female patients, because of the variable clinical features. This case is a patient who was considered to have an ordinary fibromyalgia but was found to have a Fabry disease by detailed history taking and examination. We herein report a case of chronic somatic pain due to Fabry disease without other systematic manifestations.